In dealing with a long-term illness, Hampden Township woman says emotional support is crucial to recovery

View full sizeErin Quimby has struggled with an autoimmune disease since 2011, but she says having the support of her husband, Gregg Knerr, right, and other family members, coworkers and understanding doctors helps her to cope.Courtesy of the family

On August 13, 2011, Erin Quimby and Greg Knerr celebrated one of the happiest days of their lives, surrounded by loved ones at their wedding. Just two weeks later, life as they knew it would change when Quimby, then 32, started feeling ill.

The Hampden Township couple spent the better part of their first year of marriage searching for answers to Quimby’s symptoms. Finally, a team of professionals arrived at a diagnosis: a rare immune system disorder called sarcoidosis, in which the body attacks its own tissue.

“I have very vague memories of hearing of it previously, but that would have been during my professional career,” she said. “I didn’t really remember any specifics of the disease and I had never taken care of a patient with it.”

For individuals living with an uncommon or prolonged illness, the road to treatment and recovery isn’t an easy one.

“It can be very stressful and frustrating,” said Dr. Kevin Cockroft, neurosurgeon and co-director of Penn State Hershey’s Stroke Center. “Patients tend to think, ‘nobody understands, why is this so complicated, why don’t people have any answers for me’ – those sorts of questions.”

Still, through trusting in medical professionals and the support of family and friends, finding and coping with the diagnosis is achievable.

The rocky road to diagnosis

Most times, recovering from an illness means one trip to a local general practitioner, a quick check-up and perhaps an hour-long wait for an antibiotic. For Quimby, the escalating symptoms from her rare disease meant nearly a year of appointments through progressively deteriorating health.

“Sarcoidosis is a hyper-immune disease,” she said. “Instead of protecting the body, the immune system overreacts and causes damage to tissue.”

Both Ryan and Cockroft agree: Those with rare diseases are often in for more tests and many doctors’ visits.

“I think that patients can experience quite a bit of frustration in these situations because they have to see a variety of different people and they feel like they’re not getting an answer,” said Cockroft.

The medical professionals’ first step?

“One of the things that they teach you in medical school when you’re looking for the diagnosis of somebody is the saying, ‘When you hear hoof beats, you think horses, not zebras,’” said Cockroft. “You think of more common diseases first.”

“I was actually happy because this could be treated,” said Quimby. “I had been significantly nauseous for months and it made working so difficult.”

Still, while the first round of antibiotics helped somewhat, two weeks later, she felt just as miserable. A second round of medication helped less, and in January 2012, Quimby was hospitalized with intractable nausea, vomiting, diarrhea and abdominal pain.

According to Ryan, finally being able to diagnose a rare disease is a process of finding the needle in the haystack: weeding out the common things to get to the root of the problem.

Quimby received tests for gastrointestinal bacteria, viruses, fungi, Celiac disease, thyroid disease, and gastroparesis – which required a strict special diet – before finally starting treatment for sarcoidosis in August of 2012.

More hurdles to span

Even after finding the right diagnosis, patients with rare diseases may have odds stacked against them. Insurance coverage for medications or treatments, for example, may be tricky.

“Sometimes the medication or surgery is not something that’s well-tested or directly approved for that disease,'' Cockroft said. "So insurance companies may say, ‘well, this drug is not approved for this disease, so we don’t pay for it’ – when it’s never going to be approved because the disease is so rare that they’re not going to be able to study enough patients to get the FDA approval for that specific disease.”

In Quimby’s case, for example, one 10-day antibiotic treatment copay alone was $150.

Added to that, Quimby’s physical appearance changed dramatically over the course of her diagnosis year: Before treatment, she lost an unhealthy 42 pounds because of all the foods she couldn’t tolerate, noticed her hair began to fall out, and had no energy to continue her previously independent, busy lifestyle.

After beginning a high-dose steroid treatment in the summer of 2012, her symptoms greatly improved, “but then there are the bad things about steroids,” she said. “I was literally eating in my sleep. If I didn’t eat, I felt sick.” She gained nearly 110 pounds, had extremely sensitive skin, and experienced tremors, insomnia and hot flashes.

“Being able to work was a struggle,” said Quimby. “I did eventually start back at work, but only worked four hours at a time. I missed about five months of time that one year, and I am incredibly grateful to my employers for keeping my position for me. They have been incredibly supportive.”

Rising above the challenges

This kind of support, say the experts – from doctors you trust to family members – is key to coping with a rare illness. While it’s common for those with rare illnesses visit many doctors of different specialties, for example, that isn’t necessarily a bad thing.

“It takes a while to get to that appropriate person – but then you get the ‘ah-ha’ moment when you get to the appropriate person,” said Cockroft. “You have to see someone who knows more about this problem.”

For Quimby, that care came from her rheumatologist, who was able to begin her on treatment to help with the extreme pain she had lived with for a year.

The web may also be a good place to turn for support: “What I do find is that people find online chat rooms for these rare diseases, and they can get advice from others who have similar things who might be in California or Canada,” said Ryan.

Of course, family members – who often going through similar emotions – are many times a patient’s biggest advocate. According to Ryan, loved ones many times have a “sixth sense” in terms of what the patient needs, and therefore can even aid in the diagnosis process.

“Don’t ever think that you’re being pushy or you’re bothering somebody,” he advised family members. Whether it’s a common disease or an uncommon one, “take charge, be involved and know what’s going on.”

These days, while life is far from easy, Quimby, now 35, and Knerr, 34, do the best they can to live life with sarcoidosis as normally as possible.

Because her energy levels are so low, Quimby often has to choose between working and social activities, and the side effects from her medications are still severe. Still, she remains hopeful, as well as grateful for her caring family, knowledgeable doctors who treat her, and a job she loves.

“It means a lot to me that I’m able to be empathetic and take care of others when I myself am living with an illness,” Quimby said. “I try to take opportunities to turn the attention away from me and onto someone else. If there’s anything I am capable of doing to help others, I want to do it.”